Your browser doesn't support javascript.
loading
New loci and coding variants confer risk for age-related macular degeneration in East Asians.
Cheng, Ching-Yu; Yamashiro, Kenji; Chen, Li Jia; Ahn, Jeeyun; Huang, Lulin; Huang, Lvzhen; Cheung, Chui Ming G; Miyake, Masahiro; Cackett, Peter D; Yeo, Ian Y; Laude, Augustinus; Mathur, Ranjana; Pang, Junxiong; Sim, Kar Seng; Koh, Adrian H; Chen, Peng; Lee, Shu Yen; Wong, Doric; Chan, Choi Mun; Loh, Boon Kwang; Sun, Yaoyao; Davila, Sonia; Nakata, Isao; Nakanishi, Hideo; Akagi-Kurashige, Yumiko; Gotoh, Norimoto; Tsujikawa, Akitaka; Matsuda, Fumihiko; Mori, Keisuke; Yoneya, Shin; Sakurada, Yoichi; Iijima, Hiroyuki; Iida, Tomohiro; Honda, Shigeru; Lai, Timothy Yuk Yau; Tam, Pancy Oi Sin; Chen, Haoyu; Tang, Shibo; Ding, Xiaoyan; Wen, Feng; Lu, Fang; Zhang, Xiongze; Shi, Yi; Zhao, Peiquan; Zhao, Bowen; Sang, Jinghong; Gong, Bo; Dorajoo, Rajkumar; Yuan, Jian-Min; Koh, Woon-Puay.
Afiliação
  • Cheng CY; 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore [3] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore [4
  • Yamashiro K; Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
  • Chen LJ; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
  • Ahn J; Department of Ophthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul 156-707, Korea.
  • Huang L; 1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu 610072, China [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072
  • Huang L; 1] Key Laboratory of Vision Loss and Restoration, Ministry of Education of China, Beijing 100044, China [2] Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing 100871, China [3] Department of Ophthalmology, People's Hospital, Peking University, Beijing 100871, Ch
  • Cheung CM; 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Singapore National Eye Center, Singapore 168751, Singapore.
  • Miyake M; 1] Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan [2] Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
  • Cackett PD; 1] Singapore National Eye Center, Singapore 168751, Singapore [2] Princess Alexandra Eye Pavilion, Edinburgh EH3 9HA, UK.
  • Yeo IY; Singapore National Eye Center, Singapore 168751, Singapore.
  • Laude A; 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore 308433, Singapore.
  • Mathur R; Singapore National Eye Center, Singapore 168751, Singapore.
  • Pang J; Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
  • Sim KS; Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
  • Koh AH; 1] Singapore National Eye Center, Singapore 168751, Singapore [2] Eye and Retinal Surgeons, Camden Medical Centre, Singapore 248649, Singapore.
  • Chen P; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.
  • Lee SY; Singapore National Eye Center, Singapore 168751, Singapore.
  • Wong D; Singapore National Eye Center, Singapore 168751, Singapore.
  • Chan CM; Singapore National Eye Center, Singapore 168751, Singapore.
  • Loh BK; Singapore National Eye Center, Singapore 168751, Singapore.
  • Sun Y; 1] Key Laboratory of Vision Loss and Restoration, Ministry of Education of China, Beijing 100044, China [2] Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing 100871, China [3] Department of Ophthalmology, People's Hospital, Peking University, Beijing 100871, Ch
  • Davila S; 1] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore [2] Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
  • Nakata I; 1] Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan [2] Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
  • Nakanishi H; Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
  • Akagi-Kurashige Y; 1] Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan [2] Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
  • Gotoh N; Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
  • Tsujikawa A; Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
  • Matsuda F; Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
  • Mori K; Department of Ophthalmology, Saitama Medical University, Iruma 3500495, Japan.
  • Yoneya S; Department of Ophthalmology, Saitama Medical University, Iruma 3500495, Japan.
  • Sakurada Y; Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Yamanashi 4093898, Japan.
  • Iijima H; Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Yamanashi 4093898, Japan.
  • Iida T; Department of Ophthalmology, Tokyo Women's Medical University Hospital, Tokyo 1628666, Japan.
  • Honda S; Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe 6500017, Japan.
  • Lai TY; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
  • Tam PO; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
  • Chen H; 1] Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China [2] Shantou University/Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou 515041, China.
  • Tang S; 1] Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, China [2] Aier School of Ophthalmology, Central South University, Changsha 410000, China.
  • Ding X; Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, China.
  • Wen F; Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, China.
  • Lu F; 1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu 610072, China [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072
  • Zhang X; Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, China.
  • Shi Y; 1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu 610072, China [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072
  • Zhao P; Department of Ophthalmology, Xin Hua Hospital affiliated to Shanghai Jiao Tong University, School of Medicine, Shanghai 200025, China.
  • Zhao B; Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Ophthalmology, Beijing 100730, China.
  • Sang J; Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Ophthalmology, Beijing 100730, China.
  • Gong B; 1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu 610072, China [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072
  • Dorajoo R; Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
  • Yuan JM; 1] Cancer Control and Population Sciences, University of Pittsburgh Cancer Institute, Pittsburgh, Pennsylvania 15260, USA [2] Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA.
  • Koh WP; 1] Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore [2] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.
Nat Commun ; 6: 6063, 2015 Jan 28.
Article em En | MEDLINE | ID: mdl-25629512
ABSTRACT
Age-related macular degeneration (AMD) is a major cause of blindness, but presents differently in Europeans and Asians. Here, we perform a genome-wide and exome-wide association study on 2,119 patients with exudative AMD and 5,691 controls, with independent replication in 4,226 patients and 10,289 controls, all of East Asian descent, as part of The Genetics of AMD in Asians (GAMA) Consortium. We find a strong association between CETP Asp442Gly (rs2303790), an East Asian-specific mutation, and increased risk of AMD (odds ratio (OR)=1.70, P=5.60 × 10(-22)). The AMD risk allele (442Gly), known to protect from coronary heart disease, increases HDL cholesterol levels by 0.17 mmol l(-1) (P=5.82 × 10(-21)) in East Asians (n=7,102). We also identify three novel AMD loci C6orf223 Ala231Ala (OR=0.78, P=6.19 × 10(-18)), SLC44A4 Asp47Val (OR=1.27, P=1.08 × 10(-11)) and FGD6 Gln257Arg (OR=0.87, P=2.85 × 10(-8)). Our findings suggest that some of the genetic loci conferring AMD susceptibility in East Asians are shared with Europeans, yet AMD in East Asians may also have a distinct genetic signature.
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Povo Asiático / Loci Gênicos / Degeneração Macular Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Povo Asiático / Loci Gênicos / Degeneração Macular Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article